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4.3.8 Literatur
Anguita E, Sharpe JA, Sloane-Stanley JA, Tufarelli C, Higgs DR, Wood WG (2002) Deletion of the mouse alpha-globin regulatory element (HS-26) has an unexpectedly mild phenotype. Blood 100:3450–3456
Armstrong JA, Bieker JJ, Emerson BM (1998) A SWI/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro. Cell 95:93–104
Asano H, Li XS, Stamatoyannopoulos G (1999) FKLF, a novel Kruppel-like factor that activates human embryonic and fetal beta-like globin genes. Mol Cell Biol 19:3571–3579
Ashe HL, Monks J, Wijgerde M, Fraser P, Proudfoot NJ (1997) Intergenic transcription and transinduction of the human beta-globin locus. Genes Dev 11:2494–2509
Bieker JJ, Southwood CM (1995) The erythroid Krüppel-like factor transactivation domain is a critical component for cell-specific inducibility of a beta-globin promoter. Mol Cell Biol 15:852–860
Bulger M, Groudine M (1999) Looping versus linking: toward a model for long-distance gene activation. Genes Dev 13:2465–2477
Bungert J, Engel JD (1996) The role of transcription factors in erythroid development. Ann Med 28:47–55
Bungert J, Dave U, Lim KC, Lieuw KH, Shavit JA, Liu Q, Engel JD (1995) Synergistic regulation of human beta-globin gene switching by locus control region elements HS3 and HS4. Genes Dev 9:3083–3096
Bungert J, Tanimoto K, Patel S, Liu Q, Fear M, Engel JD (1999) Hypersensitive site 2 specifies a unique function within the human beta-globin locus control region to stimulate globin gene transcription. Mol Cell Biol 19:3062–3072
Carter D, Chakalova L, Osborne CS, Dai YF, Fraser P (2002) Long-range chromatin regulatory interactions in vivo. Nat Genet 32:623–626
Chui DH, Waye JS (1998) Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood 91:2213–2222
Dame C, Albers N, Bartmann P (1999a) Candidate gene involved in genital ontogeny in chromosome region 16p 13.3. Am J Med Genet 86:302–303
Dame C, Albers N, Hasan C et al (1999b) Homozygous alpha-thalassaemia and hypospadias — common aetiology or incidental association? Long-term survival of Hb Bart’s hydrops syndrome leads to new aspects for counselling of alpha-thalassaemic traits. Eur J Pediatr 158: 217–220
Engel JD, Tanimoto K (2000) Looping, linking, and chromatin activity: new insights into beta-globin locus regulation. Cell 100:499–502
Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR (1988) Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (THAI and FIL). Br J Haematol 70:233–238
Forrester WC, Thompson C, Eider JT, Groudine M (1986) A developmentally stable chromatin structure in the human beta-globin gene cluster. Proc Natl Acad Sci USA 83: 1359–1363
Forrester WC, Epner E, Driscoll MC, Enver T, Brice M, Papayannopoulou T, Groudine M (1990) A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus. Genes Dev 4:1637–1649
Fung TY, Kin LT, Kong LC, Keung LC (1999) Homozygous alpha-thalassemia associated with hypospadias in three survivors. Am J Med Genet 82:225–227
Gibbons RJ, Higgs DR (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204–212
Gribnau J, Diderich K, Pruzina S, Calzolari R, Fraser P (2000) Intergenic transcription and developmental remodeling of chromatin subdomains in the human beta-globin locus. Mol Cell 5:377–386
Grosveld F, van Assendelft GB, Greaves DR, Kollias G (1987) Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 51:975–985
Guy LG, Mei Q, Perkins AC, Orkin SH, Wall L (1998) Erythroid Krüppel-like factor is essential for beta-globin gene expression even in absence of gene competition, but is not sufficient to induce the switch from gamma-globin to beta-globin gene expression. Blood 91:2259–2263
Higgs DR (1998) Do LCRs open chromatin domains? Cell 95:299–302
Ho PJ, Sloane-Stanley J, Athanassiadou A, Wood WG, Thein SL (1999) An in vitro system for expression analysis of mutations of the beta-globin gene: validation and application to two mutations in the 5’UTR. Br J Haematol 106:938–947
Johnson KD, Christensen HM, Zhao B, Bresnick EH (2001) Distinct mechanisms control RNA polymerase II recruitment to a tissue-specific locus control region and a downstream promoter. Mol Cell 8:465–471
Kihm AJ, Kong Y, Hong W et al (2002) An abundant erythroid protein that stabilizes free alpha-haemoglobin. Nature 417:758–763
Kleihauer E, Kohne E, Kulozik AE (1996) Anomale Hämoglobine und Thalassämiesyndrome. ecomed, Landsberg
Knippers R (2001) Molekulare Genetik. Thieme, Stuttgart
Kuo MH, Allis CD (1998) Roles of histone acetyltransferases and deacetylases in gene regulation. Bioassays 20:615–626
Leach KM, Nightingale K, Igarashi K, Levings PP, Engel JD, Becker PB, Bungert J (2001) Reconstitution of human beta-globin locus control region hypersensitive sites in the absence of chromatin assembly. Mol Cell Biol 21: 2629–2640
Leach KM, Vieira KF, Kang SH, Aslanian A, Teichmann M, Roeder RG, Bungert J (2003) Characterization of the human beta-globin downstream promoter region. Nucleic Acids Res 31:1292–1301
Letting DL, Rakowski C, Weiss MJ, Blobel GA (2003) Formation of a tissue-specific histone acetylation pattern by the hematopoietic transcription factor GATA-1. Mol Cell Biol 23:1334–1340
Levings PP, Bungert J (2002) The human beta-globin locus control region. Eur J Biochem 269:1589–1599
Li G, Lim KC, Engel JD, Bungert J (1998) Individual LCR hypersensitive sites cooperate to generate an open chromatin domain spanning the human beta-globin locus. Genes Cells 3:415–429
Li Q, Harju S, Peterson KR (1999) Locus control regions: Coming of age at a decade plus. Trends Genet 15:403–408
Liang ST, Wong VC, So WW, Ma HK, Chan V, Todd D (1985) Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 92:680–684
Liebhaber SA (1989) Alpha thalassemia. Hemoglobin 13: 685–731
Milot E, Strouboulis J, Trimborn T et al (1996) Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription. Cell 87:105–114
Nakayama R, Yamada D, Steinmiller V, Hsia E, Haie RW (1986) Hydrops fetalis secondary to Bart hemoglobinopathy. Obstet Gynecol 67:176–180
Orkin SH, Old JM, Weatherall DJ, Nathan DG (1979) Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci USA 76:2400–2404
Orkin SH, Kolodner R, Michelson A, Husson R (1980) Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene. Proc Natl Acad Sci USA 77:3558–3562
Orkin SH, Sexton JP, Cheng TC, Goff SC, Giardina PJ, Lee JI, Kazazian HH Jr (1983) ATA box transcription mutation in beta-thalassemia. Nucleic Acids Res 11:4727–4734
Orkin SH, Antonarakis SE, Kazazian HH Jr (1984) Base Substitution at position 88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. J Biol Chem 259:8679–8681
Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (2000) The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics 63:108–116
Randhawa ZI, Jones RT, Lie-Injo LE (1984) Human hemoglobin Portland II (zeta 2 beta 2). Isolation and characterization of Portland hemoglobin components and their constituent globin chains. J Biol Chem 259:7325–7330
Stamatoyannopoulos G, Grosveld F (2001) Hemoglobin switching. In: Stamatoyannopoulos G et al (eds) The molecular basis of blood diseases. Saunders, Philadelphia, pp 135–182
Strauss EC, Andrews NC, Higgs DR, Orkin SH (1992) In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. Mol Cell Biol 12:2135–2142
Tanimoto K, Liu Q, Bungert J, Engel JD (1999) Effects of altered gene order or orientation of the locus control region on human beta-globin gene expression in mice. Nature 398:344–348
Tanimoto K, Liu Q, Grosveld F, Bungert J, Engel JD (2000) Context-dependent EKLF responsiveness defines the developmental specificity of the human epsilon-globin gene in erythroid cells of YAC transgenic mice. Genes Dev 14:2778–2794
Thornley I, Lehmann L, Ferguson WS, Davis I, Forman EN, Guinan EC (2003) Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. Bone Marrow Transplant 32:341–342
Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol Cell 10:1453–1465
Tuan D, Solomon W, Li Q, London IM (1985) The „beta-like-globin“ gene domain in human erythroid cells. Proc Natl Acad Sci USA, 82:6384–6388.
Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR (2003) Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 34:157–165
Utsch B, Albers N, Dame C, Bartmann P, Lentze MJ, Ludwig M (2001) Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the 14 gene and loss of the straight thetal-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10. Am J Med Genet 101:286–287
Utsch B, Hansmann M, Albers N, Lentze MJ, Bidlingmaier F, Ludwig M (2002) Association of homozygous alpha-thalassaemia of the Southeast Asian type with hypospadias: still an intriguing enigma. Fetal Diagn Ther 17:127–128
Vyas P, Vickers MA, Simmons DL, Ayyub H, Craddock CF, Higgs DR (1992) Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin. Cell 69:781–793
Waye JS, Eng B, Chui DH (1992) Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual. Br J Haematol 80:378–380
Weatherall DJ, Clegg J (2001) The thalassemia syndromes, 4th ed. Blackwell, Oxford, pp 237–238
Wen SC, Roder K, Hu KY et al (2000) Loading of DNA-binding factors to an erythroid enhancer. Mol Cell Biol 20: 1993–2003
Wijgerde M, Grosveld F, Fraser P (1995) Transcription complex stability and chromatin dynamics in vivo. Nature 377:209–213
Wittschieben BO, Otero G, de Bizemont T et al (1999) A novel histone acetyltransferase is an integral subunit of elongating RNA polymerase II holoenzyme. Mol Cell 4: 123–128
Wojda U, Noel P, Miller JL (2002) Fetal and adult hemoglobin production during adult erythropoiesis: coordinate expression correlates with cell proliferation. Blood 99: 3005–3013
Yagi M, Gelinas R, Eider JT, Peretz M, Papayannopoulou T, Stamatoyannopoulos G, Groudine M (1986) Chromatin structure and developmental expression of the human alpha-globin cluster. Mol Cell Biol 6:1108–1116
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Dame, C., Bungert, J. (2005). Molekulare Ursachen der Störungen der Hämoglobinsynthese beim Embryo, Fetus und Neugeborenen. In: Ganten, D., Ruckpaul, K. (eds) Molekularmedizinische Grundlagen von fetalen und neonatalen Erkrankungen. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-26524-4_15
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DOI: https://doi.org/10.1007/3-540-26524-4_15
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